PubRank

D E Barton

Author PubWeight™ 61.25‹?›

Top papers

Rank Title Journal Year PubWeight™‹?›
1 Molecular characterization and chromosomal mapping of melanoma growth stimulatory activity, a growth factor structurally related to beta-thromboglobulin. EMBO J 1988 3.26
2 The human U1-70K snRNP protein: cDNA cloning, chromosomal localization, expression, alternative splicing and RNA-binding. Nucleic Acids Res 1987 2.57
3 Identification of a cDNA encoding a parathyroid hormone-like peptide from a human tumor associated with humoral hypercalcemia of malignancy. Proc Natl Acad Sci U S A 1988 2.20
4 Cystic fibrosis identified by neonatal screening: incidence, genotype, and early natural history. Arch Dis Child 1993 1.99
5 The detection of large deletions or duplications in genomic DNA. Hum Mutat 2002 1.84
6 Mutational bias provides a model for the evolution of Huntington's disease and predicts a general increase in disease prevalence. Nat Genet 1994 1.71
7 Fragile X-associated tremor/ataxia syndrome presenting in a woman after chemotherapy. Neurology 2005 1.63
8 Analysis of the huntingtin gene reveals a trinucleotide-length polymorphism in the region of the gene that contains two CCG-rich stretches and a correlation between decreased age of onset of Huntington's disease and CAG repeat number. Hum Mol Genet 1993 1.56
9 Human SSAV-related endogenous retroviral element: LTR-like sequence and chromosomal localization to 18q21. Genomics 1989 1.49
10 Quality control in molecular genetic testing. Nat Rev Genet 2001 1.47
11 Chromosomal mapping of the gene for the type II insulin-like growth factor receptor/cation-independent mannose 6-phosphate receptor in man and mouse. Genomics 1988 1.39
12 Mutations at the mitochondrial DNA polymerase (POLG) locus associated with male infertility. Nat Genet 2001 1.31
13 Mosaic uniparental disomy in Beckwith-Wiedemann syndrome. J Med Genet 1994 1.28
14 Isolation, chromosomal mapping, and expression of the mouse tyrosinase gene. J Invest Dermatol 1989 1.20
15 Rapid-onset dystonia-parkinsonism: a clinical and genetic analysis of a new kindred. Neurology 2000 1.12
16 Blast-1 possesses a glycosyl-phosphatidylinositol (GPI) membrane anchor, is related to LFA-3 and OX-45, and maps to chromosome 1q21-23. J Exp Med 1989 1.11
17 Ribonucleotide reductase M2 subunit sequences mapped to four different chromosomal sites in humans and mice: functional locus identified by its amplification in hydroxyurea-resistant cell lines. Genomics 1987 1.09
18 Hyperinsulinism: molecular aetiology of focal disease. Arch Dis Child 1998 1.08
19 Stickler syndrome: correlation between vitreoretinal phenotypes and linkage to COL 2A1. Eye (Lond) 1994 1.07
20 A frequent hMSH2 mutation in hereditary non-polyposis colon cancer syndrome. Lancet 1995 1.04
21 Haplotype analysis of the delta 2642 and (CAG)n polymorphisms in the Huntington's disease (HD) gene provides an explanation for an apparent 'founder' HD haplotype. Hum Mol Genet 1995 1.03
22 Somatic NF2 gene mutations in familial and non-familial vestibular schwannoma. Hum Mol Genet 1994 1.03
23 Genotype analysis in cystic fibrosis in relation to the occurrence of diabetes mellitus. Clin Genet 1993 1.02
24 The human tyrosine aminotransferase gene mapped to the long arm of chromosome 16 (region 16q22----q24) by somatic cell hybrid analysis and in situ hybridization. Hum Genet 1986 1.00
25 Cystic fibrosis diagnosed by molecular genetic investigation in the mother of a patient with cystic fibrosis. Thorax 1997 0.97
26 Hyperinsulinism caused by paternal-specific inheritance of a recessive mutation in the sulfonylurea-receptor gene. Diabetes 1999 0.96
27 A genome-wide scan for genes involved in primary vesicoureteric reflux. J Med Genet 2007 0.95
28 Study of the Huntington's disease (HD) gene CAG repeats in schizophrenic patients shows overlap of the normal and HD affected ranges but absence of correlation with schizophrenia. J Med Genet 1994 0.94
29 Site of (CCG) polymorphism in the HD gene. Nat Genet 1993 0.94
30 Genetic mapping of X-linked ocular albinism: linkage analysis in a large Newfoundland kindred. Genomics 1993 0.93
31 Direct, non-radioactive detection of mutations in multiple endocrine neoplasia type 2A families. Hum Mol Genet 1994 0.90
32 Presymptomatic diagnosis of von Hippel-Lindau disease with flanking DNA markers. J Med Genet 1992 0.90
33 Molecular genetic investigation of the neurofibromatosis type 2 tumor suppressor gene in sporadic meningioma. J Neurosurg 1996 0.89
34 Predictive testing for BRCA1 and 2 mutations: a male contribution. Ann Oncol 2003 0.89
35 Chimaerism shown by cytogenetics and DNA polymorphism analysis. J Med Genet 1994 0.89
36 Genetic linkage analysis in hereditary non-polyposis colon cancer syndrome. J Med Genet 1995 0.86
37 Assignment of the T-cell differentiation gene MAL to human chromosome 2, region cen----q13. Immunogenetics 1988 0.86
38 Myotonic dystrophy CTG repeats and the associated insertion/deletion polymorphism in human and primate populations. Hum Mol Genet 1994 0.84
39 Genetic mapping of the Kallmann syndrome and X linked ocular albinism gene loci. J Med Genet 1993 0.84
40 Evaluation of molecular genetic diagnosis in the management of familial adenomatous polyposis coli: a population based study. J Med Genet 1993 0.84
41 Fine-resolution mapping by haplotype evaluation: the examples of PFIC1 and BRIC. Hum Genet 1999 0.84
42 Typical Friedreich's ataxia without GAA expansions and GAA expansion without typical Friedreich's ataxia. J Neurol 2000 0.83
43 Molecular analysis of the Mov 34 mutation: transcript disrupted by proviral integration in mice is conserved in Drosophila. Development 1990 0.83
44 The relationship between Y chromosome DNA haplotypes and Y chromosome deletions leading to male infertility. Hum Genet 2001 0.81
45 A molecular, clinical, and immunohistochemical study of vestibular schwannoma. Otolaryngol Head Neck Surg 1997 0.80
46 Level of expression and chromosome mapping of the mouse cholecystokinin gene: implications for murine models of genetic obesity. Genomics 1989 0.80
47 Instability of normal (CTG)n alleles in the DM kinase gene. J Med Genet 1997 0.79
48 The relative positions of the chromosomes in the human cell in mitosis. Ann Hum Genet 1965 0.79
49 B37 repeats are normal in most schizophrenic patients. Br J Psychiatry 1994 0.78
50 Normal CAG and CCG repeats in the Huntington's disease genes of Parkinson's disease patients. Am J Med Genet 1995 0.78
51 A comparison of methods for gene dosage analysis in HMSN type 1. J Med Genet 2001 0.77
52 Molecular genetic analysis of exons 1 to 6 of the APC gene in non-polyposis familial colorectal cancer. Clin Genet 1995 0.77
53 Carrier detection in X linked ocular albinism using linked DNA polymorphisms. Br J Ophthalmol 1994 0.76
54 Issues in Huntington's disease testing. Q J Med 1994 0.76
55 Improved genetic mapping of X linked retinoschisis. J Med Genet 1996 0.75
56 A persistence problem in renewal theory: Robert the Bruce's spider. Biometrika 1966 0.75
57 Genetic characterization of a human endogenous retroviral element located on chromosome 18q21. Haematol Blood Transfus 1989 0.75
58 Molecular genetic analysis of the mechanism of tumorigenesis in acoustic neuroma. Arch Otolaryngol Head Neck Surg 1993 0.75
59 Sequential occupancy with classification. Biometrika 1968 0.75
60 Assuring high quality and evidence-based health care: a case study from HIV/AIDS services. Qual Health Care 1998 0.75